Class information for:
Level 1: RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//CEREBELLAR AGENESIS

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
18172 563 27.4 74%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
603 3       HUNTINGTONS DISEASE//SPINOCEREBELLAR ATAXIA//POLYGLUTAMINE 14359
1711 2             SPINOCEREBELLAR ATAXIA//HEREDITARY SPASTIC PARAPLEGIA//FRIEDREICHS ATAXIA 6674
18172 1                   RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//CEREBELLAR AGENESIS 563

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 RHOMBENCEPHALOSYNAPSIS authKW 2279130 8% 98% 43
2 PONTOCEREBELLAR HYPOPLASIA authKW 2207101 9% 83% 49
3 CEREBELLAR AGENESIS authKW 771349 3% 89% 16
4 GOMEZ LOPEZ HERNANDEZ SYNDROME authKW 650828 2% 100% 12
5 PEHO SYNDROME authKW 468747 2% 79% 11
6 RARS2 authKW 433886 1% 100% 8
7 UNERTAN SYNDROME authKW 417193 2% 77% 10
8 CEREBELLAR HYPOPLASIA authKW 375432 5% 23% 30
9 CEREBELLAR DISRUPTION authKW 278925 1% 86% 6
10 BRAINSTEM DISCONNECTION authKW 271179 1% 100% 5

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Clinical Neurology 8195 52% 0% 294
2 Neuroimaging 3423 10% 0% 55
3 Pediatrics 3093 26% 0% 146
4 Genetics & Heredity 1416 22% 0% 122
5 Radiology, Nuclear Medicine & Medical Imaging 917 17% 0% 93
6 Neurosciences 443 18% 0% 103
7 Pathology 192 6% 0% 33
8 Obstetrics & Gynecology 35 3% 0% 18
9 Acoustics 25 2% 0% 9
10 Medicine, Research & Experimental 10 3% 0% 16

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 ANAT CELL BIOLINTEGRAT MORPHOL GRP 54236 0% 100% 1
2 ANKARA PEDIAT 54236 0% 100% 1
3 BIDMC NEUROGENET 54236 0% 100% 1
4 BRUNNER 54236 0% 100% 1
5 CARE4RARE 54236 0% 100% 1
6 CEA NEUROIMAGERIE PSYCHIAT 54236 0% 100% 1
7 CHARLOTTE R BLOOMBERG CHILDRENS MED 54236 0% 100% 1
8 CHILD HLTH EVALUAT SCI BIOSTAT DESIGN ANAL UNIT 54236 0% 100% 1
9 CHILD NEUROL NEUROPSYCHIAT 54236 0% 100% 1
10 CHILDRENS HOSP INSELSPITAL 54236 0% 100% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 NEUROPEDIATRICS 22456 5% 1% 29
2 EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 9619 2% 1% 14
3 PEDIATRIC NEUROLOGY 9322 5% 1% 27
4 BRAIN & DEVELOPMENT 8587 4% 1% 24
5 JOURNAL OF CHILD NEUROLOGY 6420 4% 0% 24
6 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 6330 5% 0% 26
7 ORPHANET JOURNAL OF RARE DISEASES 3940 2% 1% 9
8 CEREBELLUM 3824 1% 1% 8
9 NEURORADIOLOGY 2145 2% 0% 14
10 JOURNAL OF NEURORADIOLOGY 2126 1% 1% 7

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 RHOMBENCEPHALOSYNAPSIS 2279130 8% 98% 43 Search RHOMBENCEPHALOSYNAPSIS Search RHOMBENCEPHALOSYNAPSIS
2 PONTOCEREBELLAR HYPOPLASIA 2207101 9% 83% 49 Search PONTOCEREBELLAR+HYPOPLASIA Search PONTOCEREBELLAR+HYPOPLASIA
3 CEREBELLAR AGENESIS 771349 3% 89% 16 Search CEREBELLAR+AGENESIS Search CEREBELLAR+AGENESIS
4 GOMEZ LOPEZ HERNANDEZ SYNDROME 650828 2% 100% 12 Search GOMEZ+LOPEZ+HERNANDEZ+SYNDROME Search GOMEZ+LOPEZ+HERNANDEZ+SYNDROME
5 PEHO SYNDROME 468747 2% 79% 11 Search PEHO+SYNDROME Search PEHO+SYNDROME
6 RARS2 433886 1% 100% 8 Search RARS2 Search RARS2
7 UNERTAN SYNDROME 417193 2% 77% 10 Search UNERTAN+SYNDROME Search UNERTAN+SYNDROME
8 CEREBELLAR HYPOPLASIA 375432 5% 23% 30 Search CEREBELLAR+HYPOPLASIA Search CEREBELLAR+HYPOPLASIA
9 CEREBELLAR DISRUPTION 278925 1% 86% 6 Search CEREBELLAR+DISRUPTION Search CEREBELLAR+DISRUPTION
10 BRAINSTEM DISCONNECTION 271179 1% 100% 5 Search BRAINSTEM+DISCONNECTION Search BRAINSTEM+DISCONNECTION

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 RUDNIK-SCHONEBORN, S , BARTH, PG , ZERRES, K , (2014) PONTOCEREBELLAR HYPOPLASIA.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 166. ISSUE 2. P. 173-183 34 81% 15
2 ISHAK, GE , DEMPSEY, JC , SHAW, DWW , TULLY, H , ADAM, MP , SANCHEZ-LARA, PA , GLASS, I , RUE, TC , MILLEN, KJ , DOBYNS, WB , ET AL (2012) RHOMBENCEPHALOSYNAPSIS: A HINDBRAIN MALFORMATION ASSOCIATED WITH INCOMPLETE SEPARATION OF MIDBRAIN AND FOREBRAIN, HYDROCEPHALUS AND A BROAD SPECTRUM OF SEVERITY.BRAIN. VOL. 135. ISSUE . P. 1370-1386 37 79% 22
3 BARTH, PG , BWEE, TPT , BAAS, F , NAMAVAR, Y , (2011) CLASSIFICATION, DIAGNOSIS AND POTENTIAL MECHANISMS IN PONTOCEREBELLAR HYPOPLASIA.ORPHANET JOURNAL OF RARE DISEASES. VOL. 6. ISSUE . P. - 43 52% 51
4 PASQUIER, L , MARCORELLES, P , LOGET, P , PELLUARD, F , CARLES, D , PEREZ, MJ , BENDAVID, C , DE LA ROCHEBROCHARD, C , FERRY, M , DAVID, V , ET AL (2009) RHOMBENCEPHALOSYNAPSIS AND RELATED ANOMALIES: A NEUROPATHOLOGICAL STUDY OF 40 FETAL CASES.ACTA NEUROPATHOLOGICA. VOL. 117. ISSUE 2. P. 185 -200 34 72% 27
5 BURGLEN, L , CHANTOT-BASTARAUD, S , GAREL, C , MILH, M , TOURAINE, R , ZANNI, G , PETIT, F , AFENJAR, A , GOIZET, C , BARRESI, S , ET AL (2012) SPECTRUM OF PONTOCEREBELLAR HYPOPLASIA IN 13 GIRLS AND BOYS WITH CASK MUTATIONS: CONFIRMATION OF A RECOGNIZABLE PHENOTYPE AND FIRST DESCRIPTION OF A MALE MOSAIC PATIENT.ORPHANET JOURNAL OF RARE DISEASES. VOL. 7. ISSUE . P. - 24 77% 21
6 BOSEMANI, T , ORMAN, G , BOLTSHAUSER, E , TEKES, A , HUISMAN, TAGM , PORETTI, A , (2015) CONGENITAL ABNORMALITIES OF THE POSTERIOR FOSSA.RADIOGRAPHICS. VOL. 35. ISSUE 1. P. 200 -220 37 47% 3
7 PATEL, MS , BECKER, LE , TOI, A , ARMSTRONG, DL , CHITAYAT, D , (2006) SEVERE, FETAL-ONSET FORM OF OLIVOPONTOCEREBELLAR HYPOPLASIA IN THREE SIBS: PCH TYPE 5?.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 140A. ISSUE 6. P. 594-603 33 59% 37
8 WEAVER, J , MANJILA, S , BAHULEYAN, B , BANGERT, BA , COHEN, AR , (2013) RHOMBENCEPHALOSYNAPSIS: EMBRYOPATHOLOGY AND MANAGEMENT STRATEGIES OF ASSOCIATED NEUROSURGICAL CONDITIONS WITH A REVIEW OF THE LITERATURE.JOURNAL OF NEUROSURGERY-PEDIATRICS. VOL. 11. ISSUE 3. P. 320-326 23 70% 2
9 CARABALLO, RH , POZO, AN , GOMEZ, M , SEMPRINO, M , (2011) PEHO SYNDROME: A STUDY OF FIVE ARGENTINIAN PATIENTS.PEDIATRIC NEUROLOGY. VOL. 44. ISSUE 4. P. 259-264 16 100% 1
10 JISSENDI-TCHOFO, P , SEVERINO, M , NGUEMA-EDZANG, B , TOURE, C , ARES, GS , BARKOVICH, AJ , (2015) UPDATE ON NEUROIMAGING PHENOTYPES OF MID-HINDBRAIN MALFORMATIONS.NEURORADIOLOGY. VOL. 57. ISSUE 2. P. 113 -138 44 30% 6

Classes with closest relation at Level 1


Rank Class id link
1 5260 FETAL MRI//FETUS CENTRAL NERVOUS SYSTEM//VENTRICULOMEGALY
2 15993 CONGENITAL DISORDERS OF GLYCOSYLATION//CDG//CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME
3 36490 VRK1//VRK2//EXPT THER EUT TRANSLAT ONCOL PROGRAM
4 8671 MUTISM//POSTERIOR FOSSA SYNDROME//CEREBELLAR MUTISM
5 36128 TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME
6 34928 PERRAULT SYNDROME//HOLMES ATAXIA//BOUCHER NEUHAUSER SYNDROME
7 22273 ARSACS//AOA2//SENATAXIN
8 13532 LISSENCEPHALY//LIS1//MILLER DIEKER SYNDROME
9 1635 JOUBERT SYNDROME//CILIOPATHY//BARDET BIEDL SYNDROME
10 12166 HOLOPROSENCEPHALY//TGIF//CYCLOPIA

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